The Harmony NIPT

 

The Harmony test is run on the Ariosa cell-free DNA System (AcfS), a modular, automated system powered by its proprietary DANSR and FORTE technology. The Harmony test consists of the CE-marked Harmony IVD Kit, AcfS Software (which includes the FORTE algorithm), and a set of required equipment including the Concerto Imager IVD. Our clinically validated, targeted method of DNA analysis achieves a detection rate of greater than 99% and a false-positive rate of less than 0.1% for trisomy 21.9

harmony-test-rate

* Not available in all countries.

The Harmony IVD Kit, AcfS Software and the Concerto Imager IVD are CE Marked under the IVD Directive 98/79/EC.

 

Superior performance in the general population

In a landmark study (NEXT) published in the New England Journal of Medicine, the Harmony test outperformed traditional first-trimester screening (FTS).9

 

Most broadly studied NIPT1

 

The Harmony test has been studied more extensively in scientific publications than any other cell-free DNA-based prenatal test.1 Harmony test performance has been demonstrated in singleton and twin pregnancies and in women of any age or risk category.2,7,10,11 Clinical implementation12, accuracy and reproducibility of fetal fraction assessment6 by the Harmony test have all been evaluated in peer-reviewed studies.

 

A targeted technology

The Harmony test uses DANSR assay technology that specifically targets just the chromosomes of interest for deep, directed analysis,3 reducing the complexity using massively parallel shotgun sequencing.3,4

 

The test utilizes single nucleotide polymorphism (SNP) analysis for accurate fetal fraction assessment.6 Fetal fraction (the relative proportion of cfDNA from the fetus and placenta in the mother’s blood compared to the total circulating cfDNA) is a critical quality metric for reliable NIPT.12,13,14  The Harmony test’s fetal fraction assessment has been proven to be both highly accurate and reproducible in a peer-reviewed study including 47,500 samples.6

The FORTE algorithm incorporates individual patient factors including fetal fraction, maternal age, and gestational age into the result to clearly distinguish between high and low probability.5 Compared with commonly utilized Z-Statistic scoring, FORTE provides greater discrimination between true positive and true negative results.5 Incorporation of microarray technology results in decreased variance in chromosome cfDNA counts, increased fetal fraction precision, lower cost and dramatically reduced time-to-result.4 Microarray analysis allows tests to be conducted without mixing of samples by using one patient sample per array.

Any risk refers to the average risk population (under age 35) and high risk population  (over age 35). Pregnancies with more than two fetuses, a history of  vanishing twin, maternal organ transplant or maternal aneuploidy are not eligible for the Harmony test.

References

  1. Demonstrated by 67 peer-reviewed studies using the Harmony prenatal test as of Jan 2020.
  2. Stokowski et al. Prenat Diagn. 2015 Dec;35(12):1243-1246
  3. Sparks et al. Prenat Diagn. 2012 Jan;32(1):3-9.
  4. Juneau et al. Fetal Diagn Ther. 2014. 36(4)282-6.
  5. Sparks et al. Am J Obstet Gynecol. 2012;206(4):319e1-9
  6. Schmid et al. Ultrasound Obstet Gynecol. 2018; doi:10.1002/uog.19036
  7. Gil et al. Fetal Diagn Ther.2014;35:204-211.
  8. Bevilacqua et al. Fetal Diagn Ther. 2017 Aug 23.
  9. Norton et al. New England J of Medicine. 2015; 372(17):1589-1597.
  10. Norton et al. Am J Obstet Gynecol.2012 Aug;207(2):137-8.
  11. Nicolaides et al. Am J Obstet Gynecol.2012 Nov;207(5):374.e1-6.
  12. Benn et al. Prenat Diagn 2015; 35: 725–734.
  13. Gregg et al. Genetics in Medicine 2016 Oct; 18(10):1056-65.
  14. Committee Opinion No. 640: Obstet Gynecol 2015; 126: e31-37.
  15. Ashoor G et al. Am J Obstet Gynecol. 2012;206(4):322.e1-5.